Canonical Allele Identifier: CA2675354444
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v4: 5-135031958-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031958C>A , CM000667.2:g.135031958C>A GRCh38
NC_000005.9:g.134367648C>A , CM000667.1:g.134367648C>A GRCh37
NC_000005.8:g.134395547C>A NCBI36
NG_012114.1:g.7317G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.170-450G>T MANE Select ENSP00000265340.6:n.170-450G>T
ENST00000265340.11:c.170-450G>T ENSP00000265340.6:n.170-450G>T
ENST00000502676.1:c.170-450G>T ENSP00000423624.1:n.170-450G>T
ENST00000503586.1:c.292-450G>T
ENST00000504936.1:n.53G>T
ENST00000506438.5:c.170-450G>T ENSP00000427542.1:n.170-450G>T
ENST00000507253.5:c.170-450G>T ENSP00000422908.1:n.170-450G>T
NM_002653.4:c.170-450G>T NP_002644.4:n.170-450G>T
NM_002653.5:c.170-450G>T MANE Select NP_002644.4:n.170-450G>T
Search 100 bp 5'
Search 100 bp 3'